About 1 in 500 of the UK population has hypertrophic cardiomyopathy (HCM), an inherited disease of the heart muscle that, if undetected, can lead to sudden cardiac death due to an increased risk of developing life-threatening abnormal heart rhythms.
Early pioneers
Professor John Goodwin was an early pioneer in improving our understanding of hypertrophic cardiomyopathy (HCM) and discovering that it was passed down through generations. Professor Goodwin’s research advanced methods to treat and care for people with HCM and one of his patients became the first in the world to be operated on for the condition in 1960.
In the early 1980s, BHF Professor Michael Davies was one of the first scientists to carry out pioneering pathological studies in people who had died of HCM. His careful studies identified specific characteristics which predisposed these individuals to the fatal rhythm disturbance that HCM patients can be prone to.
Working alongside Professor Davies at St George’s Hospital London were BHF-funded researchers Bill McKenna and Hugh Watkins, who started searching for the possible genetic causes of HCM. After a decade of painstaking research, McKenna and Watkins were among the first to find faulty genes underlying the condition and have since discovered more.
Find the gene
As a BHF Professor, Hugh Watkins used these findings to set up the first genetic testing service for HCM in the UK. This meant for the first time, parents, siblings and children of someone known to have a disease-causing mutation could find out if they also had it and get help to prevent a sudden cardiac death.
The initial trial found nearly 700 people with faulty genes and the test was so cost-effective it was approved as an NHS service.
In 2016, the BHF launched a UK-wide programme to increase access to genetic testing services for people suspected of having HCM. Built on the pioneering research of Professors Hugh Watkins and Bill McKenna, the programme was made reality through The Miles Frost Fund, which was set up in memory of Miles Frost, Sir David Frost’s son, who died tragically from HCM in 2015.
In search of new treatments
Despite this progress in genetic diagnosis, diagnostic tests for HCM are still not perfect. Often someone must suffer an acute cardiac event or a family loss before the condition is detected.
An estimated 120,000 people in the UK have HCM, most of them unknowingly, so we need to support new research to help improve diagnosis and understand the underlying process behind this potentially life-threatening condition, leading us to develop better treatments.
Leading the way
Professor Hugh Watkins, BHF Chair of Cardiovascular Medicine at the University of Oxford, has been a global leader in the field of HCM research. Research in Professor Watkins’ laboratory is focused on the identification of disease-causing mutations, pathophysiological mechanisms and potential new treatments in HCM.
The BHF is currently funding Professor Watkins to look at the part the immune response plays in HCM. The ability to successfully treat patients who already have the condition might be limited because of other changes that have already happened within their heart as a result of HCM. This includes inflammation and scarring that develops in the tissue surrounding the heart muscle cells.
This research programme has the potential to reveal clues about the immune system’s role in HCM, including how scarring happens. In the future this understanding could be used to find new ways to treat HCM and help people whose hearts already have HCM-associated changes in their heart muscle.
Professor Watkins is also leading a team on an innovative new project – CureHeart – that has been shortlisted for the BHF’s Big Beat Challenge. The Big Beat Challenge is a global competition that will culminate in a single research award of up to £30 million to an international, multi-disciplinary team that has identified and proposed a transformative solution to a significant problem in heart and circulatory disease research.
CureHeart aims to develop a treatment that targets the faulty genes underlying genetic cardiomyopathies, including HCM. By combining a deep understanding of the underlying genetic mechanisms with new technologies, the team aims to stop the progressive damage caused by genetic heart muscle diseases, and even stop it before it starts.
BHF Professor Watkins and his team are making discoveries that are changing medical practice for HCM. By supporting this research, you could help us better understand, diagnose and treat this condition, and prevent more families having to go through the cruel and sudden loss of a loved one.